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NM_000436.4(OXCT1):c.79-11del

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Dec 11, 2020)
Last evaluated:
Jun 28, 2020
Accession:
VCV000353669.3
Variation ID:
353669
Description:
1bp deletion
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NM_000436.4(OXCT1):c.79-11del

Allele ID
299833
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5p13.1
Genomic location
5: 41862761 (GRCh38) GRCh38 UCSC
5: 41862863 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.41862772del
NC_000005.9:g.41862874del
NM_000436.4:c.79-11del MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:41862760:AAAAAAAAAAAA:AAAAAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA3253696
dbSNP: rs748715820
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 28, 2020 RCV000342189.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OXCT1 - - GRCh38
GRCh37
95 131

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000457640.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 28, 2020)
criteria provided, single submitter
Method: clinical testing
Succinyl-CoA acetoacetate transferase deficiency
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000604583.3
Submitted: (Dec 11, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs748715820...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jan 25, 2021